The genome is the complete set of genetic information stored in the DNA molecule, which serves as a template for the development and functioning of an organism. In this lecture, we will explore the principles of DNA sequencing from classical methods to modern platforms as well as the bioinformatics approaches used to transform raw data into meaningful insights that can be applied, for example, in medicine or evolutionary biology.

Overview of large-scale genomic studies powered by high-throughput sequencing and genotyping to catalog genetic variants underpinning human disease risk. Uses Polygenic Scores to quantify predisposition and stratify individuals for precision medicine, enabling tailored treatments and facilitating the discovery of therapeutic targets by linking variant associations to functional pathways.